A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630080



Internal ID7016900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79562534..79565698hg38UCSC Ensembl
Innerchr12:79562684..79565548hg38UCSC Ensembl
Outerchr12:79562384..79565848hg38UCSC Ensembl
chr12:79956314..79959478hg19UCSC Ensembl
Innerchr12:79956464..79959328hg19UCSC Ensembl
Outerchr12:79956164..79959628hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383165
hg193165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14546412, essv14546413
SamplesHG02384, HG02402
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630080
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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